角膜炎·鱼鳞病·耳聋综合征——国内首例报告

Keratitis ichthyosis and deafness syndrome: first report in China

目的 报告1例角膜炎·鱼鳞病·耳聋综合征(Keratitis ichthyosis anddeafnes s syndrome,KID syndrome)。 方法 对我院2003年4月发现并确诊治疗的1例患者的临床资料进行分析。 结果 患者为16岁女孩,出生不久皮肤即出现鱼鳞样结痂,头皮明显角化过度,头顶部、鼻尖、双耳、面颊、双下肢自膝部以下呈过度角化的蛎壳样损害。听觉丧失,喉部可以发声,不会讲话。视力较差,秃睫,畏光。躯干部皮肤明显干燥,皮肤角化过度,呈皮革样变化。病理活检为鱼鳞病,耳科检查为先天感音神经性耳聋,眼科检查为角膜血管翳。 结论 根据患者临床表现、皮损特征及各项检查结果,诊断为KID综合征,并给予阿维A治疗,皮肤科症状明显改善。

Objective To report a case of keratitis ichthyosis and deafness syndrome (KID syndrome). Methods The clinical data of a patient with KID syndrome was studied , who had been confirmed and cured in our hospital. Results The patient was a 16-year-old girl,whose scalp had markly hyperkeratosis.There was scrofulosorm lesions over the skin of parietal region,apex nasi,bilateral ears,face and trunk.The patient had poor vision,no eyelash,photophobia,bilateral hearing loss and couldn speak.The diagnosis was ichthyosis in histopathological examination, congenital nerve deaf-mutism in otolaryngology and corneal pannus in ophthalmology. Conclusion The diagnosis of KID syndrome can be drawn from the clinical manifestations, histopathological findings and MRI imaging. Acitretin is used for the girl and the therapeutic effect is satisfied.